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17:42328579 G / A


Filter Status
PASS
dbSNP
rs121912759
Allele Frequency
0.0007064
Filtering AF
0.000992 (European (Non-Finnish))
Allele Count
76 / 107594
UCSC
17-42328579-G-A
ClinVar
Click to search for variant in Clinvar
Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above

Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.

Annotations

This variant falls on 2 transcripts in 2 genes:

missense
Note: This list may not include additional transcripts in the same gene that the variant does not overlap.
Population Frequencies
Population Allele Count Allele Number Number of Homozygotes Allele Frequency
European (Non-Finnish) 73 59984 0 0.001217
East Asian 0 8032 0 0
Other 1 782 0 0.001279
African 1 8886 0 0.0001125
Latino 1 9926 0 0.0001007
South Asian 0 15162 0 0
European (Finnish) 0 4822 0 0
Total 76 107594 0 0.0007064

Read Data

This interactive IGV.js visualization shows reads that went into calling this variant.
Note: These are reassembled reads produced by GATK HaplotypeCaller --bamOutput so they accurately represent what HaplotypeCaller was seeing when it called this variant.